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10577 NPC2

10577

NPC2

NPC intracellular cholesterol transporter 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition NPC intracellular cholesterol transporter 2

研究结论

Date Results Publications
2021-01-23 12:59:00 Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2. 32544384
2020-10-31 13:13:00 New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation.", trans "Nueva variante asociada a enfermedad de Niemann-Pick tipo C: manifestaciones neurologicas y caracterizacion bioquimica, molecular y celular. 28865947
2020-05-09 13:40:00 conclude that NPC2's affinity for all sterols is energetically favored over their self-aggregation in the lysosomal lumen. Lysosomal export of 25-OH-Chol is not strictly dependent on the NPC2 protein. 31521631
2020-04-11 10:05:00 The authors demonstrate that lysobisphosphatidic acid enrichment in human NPC2-deficient cells, either directly or via its biosynthetic precursor phosphtidylglycerol (PG), is entirely ineffective, indicating an obligate functional interaction between NPC2 and lysobisphosphatidic acid in cholesterol trafficking. 31580258
2019-01-12 12:03:00 Data show that nuclear factor kappa B subunit 2 (NF-kappaB2) regulates intracellular cholesterol transport by controlling Niemann Pick type C2 protein (NPC2) expression. 30091016

名称对应

Type IDs
Synonymous EDDM1, HE1
Gene
UniProtKB-ID: NPC2_HUMAN, A0A024R6C0_HUMAN
UniprotKB: P61916, A0A024R6C0
UniParc: UPI00017A7BCF, UPI0000062218
EMBL: BC002532, GQ891542, GQ891387, CH471061, AK298975, X67698, AC005479
Ensembl: ENSG00000119655
KO: hsa:10577
Nucleutide sequences
EMBL-CDS: AAH02532.1, CAA47928.1, BAG61069.1, ADO22404.1, EAW81176.1, ADO22249.1, EAW81177.1
Gene_ORFName: hCG_21712
Ensembl_TRS: ENST00000541064, ENST00000555619
Protein sequencees
Ensembl_PRO: ENSP00000451112, ENSP00000442488
RefSeq: NP_001362369.1, NP_001350617.1, NP_006423.1
Others
UniRef100: UniRef100_P61916
UniRef90: UniRef90_P61916
UniRef50: UniRef50_P61916
UniGene: Hs.433222
CCDS: CCDS32121.1

全选

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